Linked Data
ClinVar Variation Id:
1383007
ClinVar RCV Id:
RCV001890700
dbSNP Id:
rs768100179
ExAC:
11:121178073 G / A
gnomAD v2:
11-121178073-G-A
gnomAD v3:
11-121307364-G-A
gnomAD v4:
11-121307364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307364G>A , CM000673.2:g.121307364G>A | GRCh38 |
| NC_000011.9:g.121178073G>A , CM000673.1:g.121178073G>A | GRCh37 |
| NC_000011.8:g.120683283G>A | NCBI36 |
| NG_009446.1:g.19686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.752G>A MANE Select | ENSP00000264027.4:p.Gly251Asp | |
| ENST00000264027.8:c.752G>A | ENSP00000264027.4:p.Gly251Asp | |
| ENST00000392789.2:c.752G>A | ENSP00000376539.2:p.Gly251Asp | |
| ENST00000527183.1:n.1045G>A | ||
| ENST00000534230.5:c.632-93G>A | ENSP00000432550.1:n.632-93G>A | |
| NM_001024956.2:c.752G>A | NP_001020127.1:p.Gly251Asp | |
| NM_006918.4:c.752G>A | NP_008849.2:p.Gly251Asp | |
| NM_006918.5:c.752G>A MANE Select | NP_008849.2:p.Gly251Asp | |
| NM_001024956.3:c.752G>A | NP_001020127.1:p.Gly251Asp |